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GNAQ/GNA11 Mosaicism Causes Aberrant Calcium Signaling Susceptible to Targeted Therapeutics.
Zecchin, Davide; Knöpfel, Nicole; Gluck, Anna K; Stevenson, Mark; Sauvadet, Aimie; Polubothu, Satyamaanasa; Barberan-Martin, Sara; Michailidis, Fanourios; Bryant, Dale; Inoue, Asuka; Lines, Kate E; Hannan, Fadil M; Semple, Robert K; Thakker, Rajesh V; Kinsler, Veronica A.
Afiliação
  • Zecchin D; Mosaicism and Precision Medicine Laboratory, Francis Crick Institute, London, United Kingdom; Genetics and Genomic Medicine, UCL GOS Institute of Child Health, London, United Kingdom.
  • Knöpfel N; Mosaicism and Precision Medicine Laboratory, Francis Crick Institute, London, United Kingdom; Genetics and Genomic Medicine, UCL GOS Institute of Child Health, London, United Kingdom; Department of Paediatric Dermatology, Great Ormond St Hospital for Children, London, United Kingdom.
  • Gluck AK; Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford, United Kingdom.
  • Stevenson M; Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford, United Kingdom.
  • Sauvadet A; Mosaicism and Precision Medicine Laboratory, Francis Crick Institute, London, United Kingdom; Genetics and Genomic Medicine, UCL GOS Institute of Child Health, London, United Kingdom.
  • Polubothu S; Mosaicism and Precision Medicine Laboratory, Francis Crick Institute, London, United Kingdom; Genetics and Genomic Medicine, UCL GOS Institute of Child Health, London, United Kingdom; Department of Paediatric Dermatology, Great Ormond St Hospital for Children, London, United Kingdom.
  • Barberan-Martin S; Mosaicism and Precision Medicine Laboratory, Francis Crick Institute, London, United Kingdom; Genetics and Genomic Medicine, UCL GOS Institute of Child Health, London, United Kingdom.
  • Michailidis F; Mosaicism and Precision Medicine Laboratory, Francis Crick Institute, London, United Kingdom; Genetics and Genomic Medicine, UCL GOS Institute of Child Health, London, United Kingdom.
  • Bryant D; Mosaicism and Precision Medicine Laboratory, Francis Crick Institute, London, United Kingdom; Genetics and Genomic Medicine, UCL GOS Institute of Child Health, London, United Kingdom.
  • Inoue A; Graduate School of Pharmaceutical Sciences, Tohoku University, Sendai, Japan.
  • Lines KE; Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford, United Kingdom.
  • Hannan FM; Nuffield Department of Women's & Reproductive Health, University of Oxford, Oxford, United Kingdom.
  • Semple RK; Centre for Cardiovascular Science, Queen's Medical Research Institute, University of Edinburgh, Edinburgh, United Kingdom.
  • Thakker RV; Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford, United Kingdom; National Institute for Health Research Oxford Biomedical Research Centre, Oxford, United Kingdom.
  • Kinsler VA; Mosaicism and Precision Medicine Laboratory, Francis Crick Institute, London, United Kingdom; Genetics and Genomic Medicine, UCL GOS Institute of Child Health, London, United Kingdom; Department of Paediatric Dermatology, Great Ormond St Hospital for Children, London, United Kingdom. Electronic addr
J Invest Dermatol ; 144(4): 811-819.e4, 2024 Apr.
Article em En | MEDLINE | ID: mdl-37802293
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Subunidades alfa de Proteínas de Ligação ao GTP / Subunidades alfa Gq-G11 de Proteínas de Ligação ao GTP Tipo de estudo: Etiology_studies Idioma: En Ano de publicação: 2024 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Subunidades alfa de Proteínas de Ligação ao GTP / Subunidades alfa Gq-G11 de Proteínas de Ligação ao GTP Tipo de estudo: Etiology_studies Idioma: En Ano de publicação: 2024 Tipo de documento: Article